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目的:了解天津市新生儿先天性甲状腺功能低下症(CH)和苯丙酮尿症(PKU)的发病率和筛查现状。方法:新生儿出生72 h后采集足跟血滴于滤纸片,应用时间分辨荧光免疫方法检测干血片的促甲状腺激素(TSH)的水平,采用荧光法检测苯丙氨酸(phe)含量。结果:2005～2010年间,天津市新生儿疾病筛查中心共筛查新生儿469 544例,近两年筛查覆盖率接近100%,共筛查出CH阳性患儿210例,CH的发病率为1/2 236,农村地区略高于城市(P<0.05),其中塘沽区和大港区CH的发病率明显高于市区平均水平(P<0.05);筛出PKU阳性患儿59例,其中确诊1例四氢生物蝶呤缺乏症患儿,PKU的发病率为1/7 161,两病的发病率均高于全国平均水平。结论:新生儿疾病筛查是减少出生缺陷的重要手段,是预防保健的重要组成部分;通过筛查和早期治疗,可使患儿智力达到正常水平,减少弱智儿童的发病率;有效开展新生儿疾病筛查,对提高人口素质起着积极的推动作用。
Objective: To investigate the incidence and screening status of congenital hypothyroidism (CH) and phenylketonuria (PKU) in Tianjin. Methods: The heel blood was collected on the filter paper 72 hours after birth. The TSH level of the dried blood tablets was detected by time-resolved fluorescence immunosorbent assay. The content of phenylalanine (phe) was detected by fluorescence method. Results: From 2005 to 2010, 469 544 newborns were screened in Tianjin Newborns Disease Screening Center. The screening coverage in the recent two years was nearly 100%. A total of 210 CH-positive children were screened out. The incidence of CH (P <0.05). The prevalence of CH in Tanggu District and Dagang District was significantly higher than that in urban area (P <0.05), and 59 cases of PKU-positive children were screened out, One case of tetrahydrobiopterin deficiency diagnosed in children, the incidence of PKU 1/7 161, the incidence of both diseases were higher than the national average. Conclusion: Neonatal disease screening is an important means to reduce birth defects and is an important part of preventive health care. Through screening and early treatment, children’s intelligence can reach normal levels and reduce the incidence of mentally retarded children. Effective neonatal Disease screening plays an active role in promoting the quality of the population.